Canonical Allele Identifier: CA491114297

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638283T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345942T>G , CM000677.2:g.72345942T>G	GRCh38
NC_000015.9:g.72638283T>G , CM000677.1:g.72638283T>G	GRCh37
NC_000015.8:g.70425337T>G	NCBI36
NG_009017.1:g.35238A>C
NG_009017.2:g.35238A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*81+293A>C	ENSP00000457521.2:n.*81+293A>C
ENST00000682061.1:c.*1376A>C	ENSP00000508316.1:n.*1376A>C
ENST00000682064.1:n.1257A>C
ENST00000682177.1:c.1464+293A>C	ENSP00000507409.1:n.1464+293A>C
ENST00000682235.1:n.1053A>C
ENST00000682461.1:c.1527+293A>C	ENSP00000507308.1:n.1527+293A>C
ENST00000682653.1:n.2034A>C
ENST00000682657.1:c.*867A>C	ENSP00000507753.1:n.*867A>C
ENST00000682721.1:c.*1224+293A>C	ENSP00000507535.1:n.*1224+293A>C
ENST00000682843.1:c.*1062+293A>C	ENSP00000508173.1:n.*1062+293A>C
ENST00000683003.1:c.*867A>C	ENSP00000507576.1:n.*867A>C
ENST00000683133.1:c.1605+293A>C	ENSP00000508108.1:n.1605+293A>C
ENST00000683243.1:c.*574+293A>C	ENSP00000507042.1:n.*574+293A>C
ENST00000683463.1:c.*519A>C	ENSP00000507986.1:n.*519A>C
ENST00000683548.1:n.1488A>C
ENST00000683579.1:c.*1319+293A>C	ENSP00000506867.1:n.*1319+293A>C
ENST00000683587.1:n.1561A>C
ENST00000683681.1:c.1422-166A>C	ENSP00000508110.1:n.1422-166A>C
ENST00000683735.1:c.*1428A>C	ENSP00000508336.1:n.*1428A>C
ENST00000683853.1:c.*226+293A>C	ENSP00000506834.1:n.*226+293A>C
ENST00000683860.1:c.*150A>C	ENSP00000507179.1:n.*150A>C
ENST00000683884.1:c.*357A>C	ENSP00000507004.1:n.*357A>C
ENST00000684041.1:c.*289A>C	ENSP00000508382.1:n.*289A>C
ENST00000684125.1:c.*81+293A>C	ENSP00000507320.1:n.*81+293A>C
ENST00000684203.1:n.3479A>C
ENST00000684231.1:c.*831+293A>C	ENSP00000507748.1:n.*831+293A>C
ENST00000684263.1:c.*654A>C	ENSP00000508369.1:n.*654A>C
ENST00000684305.1:c.1869+293A>C	ENSP00000506819.1:n.1869+293A>C
ENST00000684415.1:c.*581A>C	ENSP00000507227.1:n.*581A>C
ENST00000684520.1:c.*289A>C	ENSP00000506826.1:n.*289A>C
ENST00000684602.1:c.*1087+293A>C	ENSP00000507996.1:n.*1087+293A>C
ENST00000684667.1:c.1752+293A>C	ENSP00000507003.1:n.1752+293A>C
ENST00000268097.10:c.1421+293A>C MANE Select	ENSP00000268097.6:n.1421+293A>C
ENST00000268097.9:c.1421+293A>C	ENSP00000268097.5:n.1421+293A>C
ENST00000379915.4:c.503+293A>C	ENSP00000478716.1:n.503+293A>C
ENST00000566304.5:c.1454+293A>C	ENSP00000455114.1:n.1454+293A>C
ENST00000567027.5:c.1036+293A>C
ENST00000567159.5:c.1421+293A>C	ENSP00000456489.1:n.1421+293A>C
ENST00000567411.5:c.*942+293A>C	ENSP00000455545.1:n.*942+293A>C
ENST00000568777.5:n.6641+293A>C
NM_000520.4:c.1421+293A>C	NP_000511.2:n.1421+293A>C
NM_000520.5:c.1421+293A>C	NP_000511.2:n.1421+293A>C
NM_001318825.1:c.1454+293A>C	NP_001305754.1:n.1454+293A>C
NR_134869.1:n.1665+293A>C
NM_000520.6:c.1421+293A>C MANE Select	NP_000511.2:n.1421+293A>C
NM_001318825.2:c.1454+293A>C	NP_001305754.1:n.1454+293A>C
NR_134869.2:n.1206+293A>C
NR_134869.3:n.1206+293A>C